Carbohydrate metabolism

Results: 405



#Item
191Chemical pathology / Inborn errors of carbohydrate metabolism / Glycogen storage disease type II / Hepatology / Lysosomal storage disease / Acid alpha-glucosidase / Hypotonia / Alglucosidase alfa / Lactate dehydrogenase / Medicine / Health / Rare diseases

RESEARCH ARTICLE A Large-Scale Nationwide Newborn Screening Program for Pompe Disease in Taiwan: Towards Effective Diagnosis and Treatment Chia-Feng Yang,1 Hao-Chuan Liu,1 Ting-Rong Hsu,1,2 Fang-Chih Tsai,1 Sheng-Fong C

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2014-02-22 17:37:46
192Hepatology / Inborn errors of carbohydrate metabolism / Enzymes / Exercise physiology / Muscular system / Glycogen storage disease type II / Acid alpha-glucosidase / Glycogen / Muscle / Biology / Anatomy / Medicine

Glycoengineered Acid α-Glucosidase With Improved Efficacy at Correcting the Metabolic Aberrations and Motor Function Deficits in a Mouse Model of Pompe Disease

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2010-08-10 23:04:01
193Rare diseases / Mental retardation / Epidemiology / Newborn screening / Inborn errors of carbohydrate metabolism / Phenylketonuria / Galactosemia / Urea cycle disorder / Biotinidase deficiency / Health / Medicine / Pediatrics

Newborn screening could save your Y ‘

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Source URL: health.hawaii.gov

Language: English - Date: 2013-04-30 19:27:38
194Hepatology / Inborn errors of carbohydrate metabolism / Exercise physiology / Muscular system / Growth factors / Glycogen storage disease type II / Acid alpha-glucosidase / Lysosomal storage disease / Enzyme replacement therapy / Biology / Anatomy / Medicine

Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2011-05-07 19:47:12
195Hepatology / Rare diseases / Exercise physiology / Neurological disorders / Inborn errors of carbohydrate metabolism / Glycogen storage disease type II / Glycogen / Muscle / Virus / Biology / Medicine / Health

amda AMDA Conference Call Transcript Session No. 4: Speaker:

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Source URL: amdapompe.ehclients.com

Language: English - Date: 2010-01-01 11:24:01
196Nutrition / Genetics / Biochemistry / Glycolysis / Carbohydrate / Enzyme / Photosynthesis / Nucleic acid / Protein / Biology / Cellular respiration / Metabolism

The Manga Guide to Biochemistry © 2011 Masaharu Takemura, Kikuyaro, and Office Sawa. Contents Preface . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

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Source URL: www.nostarch.com

Language: English - Date: 2012-02-08 15:24:22
197Rare diseases / Epidemiology / Newborn screening / Pediatrics / Fatty-acid metabolism disorder / Inborn errors of carbohydrate metabolism / Screening / Biotinidase deficiency / Phenylketonuria / Health / Medicine / Genetic genealogy

NEWBORN SCREENING FACT SHEET SCADD (Short Chain Acyl-CoA Dehydrogenese Deficiency) What is it? SCADD stands for short chain acyl-CoA dehydrogenase deficiency. It is one type of

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Source URL: www.ndhealth.gov

Language: English - Date: 2009-02-20 12:54:56
198Mental retardation / Epidemiology / Newborn screening / Inborn errors of carbohydrate metabolism / Galactosemia / Phenylketonuria / Biotinidase deficiency / Screening / Infant / Health / Medicine / Pediatrics

A BABY’S FIRST STEP IN LIFE A NEWBORN SCREENING GUIDE FOR PARENTS Illinois Department of Public Health WHY DOES MY BABY NEED NEWBORN SCREENING? Most babies born in the United States are healthy, but there are some babi

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Source URL: www.idph.state.il.us

Language: English - Date: 2014-04-07 12:39:22
199Hypoglycemia / Fatty-acid metabolism disorder / Medium-chain acyl-coenzyme A dehydrogenase deficiency / Inborn errors of carbohydrate metabolism / Newborn screening / Glycogen storage disease type I / Very long-chain acyl-coenzyme A dehydrogenase deficiency / Health / Medicine / Rare diseases

NEWBORN SCREENING FACT SHEET MCADD (Medium Chain Acyl-CoA Dehydrogenese Deficiency) What is it? MCADD stands for medium chain acyl-CoA dehydrogenase deficiency. It is one type of

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Source URL: www.ndhealth.gov

Language: English - Date: 2009-02-19 11:32:00
200Medicine / Newborn screening / Galactose / Milk / Human breast milk / Galactosemic cataract / Galactose-1-phosphate uridylyltransferase deficiency / Inborn errors of carbohydrate metabolism / Health / Galactosemia

NEWBORN SCREENING FACT SHEET Galactosemia What is it? A person who has galactosemia cannot break down galactose (a sugar found in milk and milk products). The body breaks down galactose into

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Source URL: www.ndhealth.gov

Language: English - Date: 2009-02-19 11:32:03
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